Chromosome stability is maintained by short intercentromeric distance in functionally dicentric human Robertsonian translocations
Chromosome stability is maintained by short intercentromeric distance in functionally dicentric human Robertsonian translocations
复制标题
DOI：
10.1023/a:1009286929145
复制
发表时间：
1998-02
影响因子：
2.6
通讯作者：
S. Page;L. Shaffer
中科院分区：
文献类型：
--
作者：
S. Page;L. Shaffer
虽然双着丝粒染色体的形成通常导致染色体不稳定，但人类双着丝粒罗伯逊易位通常保持稳定。为了研究这种稳定性的基础上，我们已经检查了15个结构双着丝粒罗布（13 q14 q）罗伯逊易位的着丝粒免疫荧光和荧光原位杂交（FISH）。着丝粒蛋白C（CENP-C）的免疫荧光检测被用作着丝粒功能的标志物，因为CENP-C似乎在动粒结构和稳定性中起重要作用，并且先前显示不存在于无活性的着丝粒中。在所有15个含有易位的细胞系中，CENP-C仅限于所分析的一部分细胞中易位的着丝粒之一。这表明，着丝粒失活通常发生在双着丝粒罗伯逊易位，并可能作为一种机制，允许其稳定性。然而，在大多数易位中（15个中的12个），分析的一部分细胞在两个着丝粒处显示CENP-C免疫荧光，表明两个着丝粒都是活跃的，并且易位在功能上是双着丝粒的。在两个着丝粒处具有CENP-C的细胞的百分比范围为2%至82%。这些结果支持了这一假设，即罗伯逊易位的两个功能性着丝粒的紧密接近使它们保持稳定。
While the formation of a dicentric chromosome often leads to chromosome instability, human dicentric Robertsonian translocations usually remain stable. To investigate the basis for this stability, we have examined the centromeres of 15 structurally dicentric rob(13q14q) Robertsonian translocations using immunofluorescence and fluorescence in situ hybridization (FISH). The immunofluorescence detection of centromere protein C (CENP-C) was used as a marker for centromere function as CENP-C seems to play an essential role in kinetochore structure and stability and was previously shown to be absent from inactive centromeres. In all 15 translocation-containing cell lines, CENP-C was confined to only one of the centromeres of the translocation in a fraction of the cells analyzed. This suggests that centromere inactivation commonly occurs on dicentric Robertsonian translocations and may serve as one mechanism allowing for their stability. However, in the majority of the translocations (12 out of 15), a portion of the cells analyzed displayed CENP-C immunofluorescence at both centromeres, suggesting that both centromeres were active and that the translocation was functionally dicentric. The percentage of cells with CENP-C at both centromeres ranged from 2% to 82%. These results support the hypothesis that the close proximity of two functional centromeres on Robertsonian translocations allows them to remain stable.